Albu Alice, Barbu Carmen Gabriela, Antonie Lavinia, Vladareanu Florentina, Fica Simona
Assistant Professor of Endocrinology, Carol Davila University of Medicine and Pharmacy, Endocrinology Department, Elias Hospital, Bucharest, Romania.
Postgrad Med. 2014 Sep;126(5):121-7. doi: 10.3810/pgm.2014.09.2806.
β-Thalassemia major (BTM) is a rare disease that challenges clinicians because of the high prevalence of complications despite progress in the development of new therapeutic methods. The aim of this study was to identify clinical and hematological parameters associated with hypogonadism, the most frequent iron overload-related complication found in Romanian patients.
Patients with BTM were evaluated in the Endocrinology Department of Elias Hospital between February 2004 and December 2013. Only patients who provided written informed consent were included in the study. A complete physical and hormonal evaluation was performed on all patients, and data regarding treatment of the hematological disease were collected.
Of the evaluable patients, 85 were included in the study (median age, 21[10] years; range, 13-36 years). We found that 30.6% of the study participants (26 of 85) had normal gonadal status, 54.1% (46 of 85) had early forms of hypogonadism (delayed or arrested puberty), and 15.3% (n = 13) developed hypogonadism after complete sexual maturation. Patients with any form of hypogonadism were older (median age 22 vs 16.5 years, P = 0.047), had significantly lower average hemoglobin levels (P = 0.003), and had higher levels of serum ferritin (P = 0.006) versus patients without hypogonadism. Patients with delayed puberty were associated with increased average serum ferritin levels (P = 0.007), decreased hemoglobin levels (P = 0.001), and increased age at initiation of iron chelation therapy (P < 0.01). We found no significant differences between patients with early forms of hypogonadism and those with hypogonadism after complete sexual maturation, with respect to the analyzed parameters. Patients with adult hypogonadism were significantly older (median age 26 vs 16.5 years, P = 0.007) and tended to have higher serum ferritin levels (P = 0.056) compared with patients without hypogonadism.
Our data show that hypogonadism is highly prevalent among Romanian patients with BTM, its presence being associated with higher iron overload and lower hemoglobin values. The late start of iron chelation therapy was particularly associated with pubertal abnormalities.
重型β地中海贫血（BTM）是一种罕见疾病，尽管新治疗方法不断发展，但由于并发症高发，仍给临床医生带来挑战。本研究旨在确定与性腺功能减退相关的临床和血液学参数，性腺功能减退是罗马尼亚患者中最常见的铁过载相关并发症。
2004年2月至2013年12月期间，在埃利亚斯医院内分泌科对BTM患者进行评估。本研究仅纳入提供书面知情同意书的患者。对所有患者进行了全面的体格和激素评估，并收集了血液系统疾病治疗的数据。
在可评估的患者中，85例纳入研究（中位年龄21[10]岁；范围13 - 36岁）。我们发现，30.6%的研究参与者（85例中的26例）性腺状态正常，54.1%（85例中的46例）有早期性腺功能减退形式（青春期延迟或停滞），15.3%（n = 13）在性成熟后出现性腺功能减退。与无性腺功能减退的患者相比，任何形式性腺功能减退的患者年龄更大（中位年龄22岁对16.5岁，P = 0.047），平均血红蛋白水平显著更低（P = 0.003），血清铁蛋白水平更高（P = 0.006）。青春期延迟的患者与平均血清铁蛋白水平升高（P = 0.007）、血红蛋白水平降低（P = 0.001）以及开始铁螯合治疗的年龄增加相关（P < 0.01）。就分析的参数而言，我们发现早期性腺功能减退形式的患者与性成熟后性腺功能减退的患者之间无显著差异。与无性腺功能减退的患者相比，成年性腺功能减退患者年龄显著更大（中位年龄26岁对16.5岁，P = 0.007），且血清铁蛋白水平往往更高（P = 0.056）。
我们的数据表明，性腺功能减退在罗马尼亚BTM患者中非常普遍，其存在与更高的铁过载和更低的血红蛋白值相关。铁螯合治疗开始较晚尤其与青春期异常相关。
